1. Geographical Affinities of the HapMap Samples
- Author
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Miao He, Peter de Knijff, Yali Xue, Tatiana Zerjal, Jane Gitschier, Chris Tyler-Smith, The Wellcome Trust Sanger Institute [Cambridge], University of California [San Francisco] (UCSF), University of California, Gis-Moulon, Partenaires INRAE, Leiden University Medical Center (LUMC), Wellcome Trust European Commission, Howard Hughes Medical Institute, and Netherlands Organization for Scientific Research (NWO)
- Subjects
Population ,Population genetics ,lcsh:Medicine ,Single-nucleotide polymorphism ,Single sample ,Biology ,03 medical and health sciences ,Genetics and Genomics/Population Genetics ,Humans ,International HapMap Project ,Genetics and Genomics/Genomics ,education ,lcsh:Science ,030304 developmental biology ,Genetics ,0303 health sciences ,Snp data ,education.field_of_study ,Multidisciplinary ,[SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE] ,Geography ,030305 genetics & heredity ,Haplotype ,lcsh:R ,Genetics and Genomics ,Affinities ,Biological Evolution ,Genetics, Population ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,lcsh:Q ,Research Article - Abstract
International audience; Background: The HapMap samples were collected for medical-genetic studies, but are also widely used in populationgenetic and evolutionary investigations. Yet the ascertainment of the samples differs from most population-genetic studies which collect individuals who live in the same local region as their ancestors. What effects could this non-standard ascertainment have on the interpretation of HapMap results? Methodology/Principal Findings: We compared the HapMap samples with more conventionally-ascertained samples used in population-and forensic-genetic studies, including the HGDP-CEPH panel, making use of published genome-wide autosomal SNP data and Y-STR haplotypes, as well as producing new Y-STR data. We found that the HapMap samples were representative of their broad geographical regions of ancestry according to all tests applied. The YRI and JPT were indistinguishable from independent samples of Yoruba and Japanese in all ways investigated. However, both the CHB and the CEU were distinguishable from all other HGDP-CEPH populations with autosomal markers, and both showed Y-STR similarities to unusually large numbers of populations, perhaps reflecting their admixed origins. Conclusions/Significance: The CHB and JPT are readily distinguished from one another with both autosomal and Ychromosomal markers, and results obtained after combining them into a single sample should be interpreted with caution. The CEU are better described as being of Western European ancestry than of Northern European ancestry as often reported. Both the CHB and CEU show subtle but detectable signs of admixture. Thus the YRI and JPT samples are well-suited to standard population-genetic studies, but the CHB and CEU less so.
- Published
- 2009
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